Canonical Allele Identifier: CA2784610502

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700719del , CM000671.2:g.72700719del	GRCh38
NC_000009.11:g.75315635del , CM000671.1:g.75315635del	GRCh37
NC_000009.10:g.74505455del	NCBI36
NG_008213.1:g.183919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.362+76del MANE Select	ENSP00000297784.6:n.362+76del
ENST00000644967.1:c.-77+6005del	ENSP00000496159.1:n.-77+6005del
ENST00000645053.1:c.-77+6005del	ENSP00000493838.1:n.-77+6005del
ENST00000645208.2:c.362+76del	ENSP00000494684.1:n.362+76del
ENST00000645773.1:c.236+6005del	ENSP00000493698.1:n.236+6005del
ENST00000645787.1:n.402+76del
ENST00000646244.1:n.888del
ENST00000646619.1:c.-77+6005del	ENSP00000493726.1:n.-77+6005del
ENST00000650689.1:n.660+6005del
ENST00000651183.1:c.-77+6005del	ENSP00000498723.1:n.-77+6005del
ENST00000297784.9:c.362+76del	ENSP00000297784.5:n.362+76del
ENST00000340019.4:c.362+76del	ENSP00000341433.3:n.362+76del
NM_138691.2:c.362+76del	NP_619636.2:n.362+76del
XM_011518213.1:c.950+76del	XP_011516515.1:n.950+76del
XM_017014256.1:c.365+76del	XP_016869745.1:n.365+76del
NM_138691.3:c.362+76del MANE Select	NP_619636.2:n.362+76del